DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
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DOI: 10.3389/fcvm.2023.1130903
Abstract: Background Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with DSP cardiomyopathy might… read more here.
Keywords: increased trabeculation; 6310dela thr2104glnfs; dsp 6310dela; participants dsp ... See more keywords